Hexokinase Enzyme Activity, Blood
Use
This test is useful for evaluating individuals with Coombs-negative chronic hemolysis. Hexokinase (HK) is the first enzymatic step in glycolysis, converting glucose to glucose 6-phosphate. Hexokinase deficiency is a rare cause of chronic nonspherocytic hemolytic anemia with an autosomal recessive inheritance. Clinically, HK deficiency manifests in early onset anemia with variable severity, ranging from mild to severe. Neurologic impairment may also occur in some patients.
Special Instructions
Not provided.
Limitations
Recent transfusion may mask intrinsic enzyme activity results. HK activity levels can vary in affected individuals due to compensated reticulocyte enzyme increase. High HK activity due to increased reticulocytes is not indicative of HK deficiency. Genetic confirmation or clinical correlation may be required for diagnosis.
New York Approved
Methodology
Automated Analyzer (Clinical Chemistry)
Biomarkers
Hexokinase enzyme activity
Analyte
LOINC Codes
- 49216-5 - Hexokinase RBC-cCnt
- 49216-5 - Hexokinase RBC-cCnt
Result Turnaround Time
1-6 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
1 mL
Container
Yellow top (ACD solution B); Acceptable: Lavender top (EDTA)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Causes for Rejection
Gross hemolysis, Fully clotted
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 20 days |